UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439607C>A | CA409652460 | KCNQ2 | c.918G>T (p.Ala306=) n.656G>T c.399G>T (p.Ala133=) c.576G>T (p.Ala192=) n.1044G>T c.283G>T c.62G>T c.421G>T (p.Ala141Ser) n.743G>T c.792G>T (p.Ala264=) c.849G>T (p.Ala283=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63439607C= | CA2374791928 | KCNQ2 | c.918G= (p.Ala306=) n.656G= c.399G= (p.Ala133=) c.576G= (p.Ala192=) n.1044G= c.283G= c.62G= c.421G= (p.Ala141=) n.743G= c.792G= (p.Ala264=) c.849G= (p.Ala283=) | |
| 20 | g.63439607C>G | CA409652461 | KCNQ2 | c.918G>C (p.Ala306=) n.656G>C c.399G>C (p.Ala133=) c.576G>C (p.Ala192=) n.1044G>C c.283G>C c.62G>C c.421G>C (p.Ala141Pro) n.743G>C c.792G>C (p.Ala264=) c.849G>C (p.Ala283=) | dbSNP gnomAD v2 |
| 20 | g.63439607C>T | CA9958701 | KCNQ2 | c.918G>A (p.Ala306=) n.656G>A c.399G>A (p.Ala133=) c.576G>A (p.Ala192=) n.1044G>A c.283G>A c.62G>A c.421G>A (p.Ala141Thr) n.743G>A c.792G>A (p.Ala264=) c.849G>A (p.Ala283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439608G>A | CA347954 | KCNQ2 | c.917C>T (p.Ala306Val) n.655C>T c.398C>T (p.Ala133Val) c.575C>T (p.Ala192Val) n.1043C>T c.282C>T c.61C>T c.420C>T (p.Arg140=) n.742C>T c.791C>T (p.Ala264Val) c.848C>T (p.Ala283Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63439608G>C | CA409652464 | KCNQ2 | c.917C>G (p.Ala306Gly) n.655C>G c.398C>G (p.Ala133Gly) c.575C>G (p.Ala192Gly) n.1043C>G c.282C>G c.61C>G c.420C>G (p.Arg140=) n.742C>G c.791C>G (p.Ala264Gly) c.848C>G (p.Ala283Gly) | |
| 20 | g.63439608G= | CA2374791929 | KCNQ2 | c.917C= (p.Ala306=) n.655C= c.398C= (p.Ala133=) c.575C= (p.Ala192=) n.1043C= c.282C= c.61C= c.420C= (p.Arg140=) n.742C= c.791C= (p.Ala264=) c.848C= (p.Ala283=) | |
| 20 | g.63439608G>T | CA409652465 | KCNQ2 | c.917C>A (p.Ala306Glu) n.655C>A c.398C>A (p.Ala133Glu) c.575C>A (p.Ala192Glu) n.1043C>A c.282C>A c.61C>A c.420C>A (p.Arg140=) n.742C>A c.791C>A (p.Ala264Glu) c.848C>A (p.Ala283Glu) | ClinVar dbSNP |
| 20 | g.63439609C>A | CA409652467 | KCNQ2 | c.916G>T (p.Ala306Ser) n.654G>T c.397G>T (p.Ala133Ser) c.574G>T (p.Ala192Ser) n.1042G>T c.281G>T c.60G>T c.419G>T (p.Arg140Leu) n.741G>T c.790G>T (p.Ala264Ser) c.847G>T (p.Ala283Ser) | |
| 20 | g.63439609C= | CA2374791930 | KCNQ2 | c.916G= (p.Ala306=) n.654G= c.397G= (p.Ala133=) c.574G= (p.Ala192=) n.1042G= c.281G= c.60G= c.419G= (p.Arg140=) n.741G= c.790G= (p.Ala264=) c.847G= (p.Ala283=) | |
| 20 | g.63439609C>G | CA315410 | KCNQ2 | c.916G>C (p.Ala306Pro) n.654G>C c.397G>C (p.Ala133Pro) c.574G>C (p.Ala192Pro) n.1042G>C c.281G>C c.60G>C c.419G>C (p.Arg140Pro) n.741G>C c.790G>C (p.Ala264Pro) c.847G>C (p.Ala283Pro) | ClinVar dbSNP |
| 20 | g.63439609C>T | CA340674 | KCNQ2 | c.916G>A (p.Ala306Thr) n.654G>A c.397G>A (p.Ala133Thr) c.574G>A (p.Ala192Thr) n.1042G>A c.281G>A c.60G>A c.419G>A (p.Arg140His) n.741G>A c.790G>A (p.Ala264Thr) c.847G>A (p.Ala283Thr) | ClinVar dbSNP |
| 20 | g.63439609_63439612delinsCGAA | CA2374791931 | KCNQ2 | c.913_916delinsTTCG (p.Phe305=) n.651_654delinsTTCG c.394_397delinsTTCG (p.Phe132=) c.571_574delinsTTCG (p.Phe191=) n.1039_1042delinsTTCG c.278_281delinsTTCG c.57_60delinsTTCG c.416_419delinsTTCG (p.Leu139=) n.738_741delinsTTCG c.787_790delinsTTCG (p.Phe263=) c.844_847delinsTTCG (p.Phe282=) | |
| 20 | g.63439610G>A | CA9958702 | KCNQ2 | c.915C>T (p.Phe305=) n.653C>T c.396C>T (p.Phe132=) c.573C>T (p.Phe191=) n.1041C>T c.280C>T c.59C>T c.418C>T (p.Arg140Cys) n.740C>T c.789C>T (p.Phe263=) c.846C>T (p.Phe282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63439610G>C | CA409652470 | KCNQ2 | c.915C>G (p.Phe305Leu) n.653C>G c.396C>G (p.Phe132Leu) c.573C>G (p.Phe191Leu) n.1041C>G c.280C>G c.59C>G c.418C>G (p.Arg140Gly) n.740C>G c.789C>G (p.Phe263Leu) c.846C>G (p.Phe282Leu) | ClinVar dbSNP |
| 20 | g.63439610G= | CA2374791932 | KCNQ2 | c.915C= (p.Phe305=) n.653C= c.396C= (p.Phe132=) c.573C= (p.Phe191=) n.1041C= c.280C= c.59C= c.418C= (p.Arg140=) n.740C= c.789C= (p.Phe263=) c.846C= (p.Phe282=) | |
| 20 | g.63439610G>T | CA315408 | KCNQ2 | c.915C>A (p.Phe305Leu) n.653C>A c.396C>A (p.Phe132Leu) c.573C>A (p.Phe191Leu) n.1041C>A c.280C>A c.59C>A c.418C>A (p.Arg140Ser) n.740C>A c.789C>A (p.Phe263Leu) c.846C>A (p.Phe282Leu) | ClinVar dbSNP |
| 20 | g.63439614_63439616del | CA208154 | KCNQ2 | c.913_915del (p.Phe305del) n.651_653del c.394_396del (p.Phe132del) c.571_573del (p.Phe191del) n.1039_1041del c.278_280del c.57_59del c.416_418del (p.Leu139del) n.738_740del c.787_789del (p.Phe263del) c.844_846del (p.Phe282del) | ClinVar dbSNP |
| 20 | g.63439611A>C | CA409652473 | KCNQ2 | c.914T>G (p.Phe305Cys) n.652T>G c.395T>G (p.Phe132Cys) c.572T>G (p.Phe191Cys) n.1040T>G c.279T>G c.58T>G c.417T>G (p.Leu139=) n.739T>G c.788T>G (p.Phe263Cys) c.845T>G (p.Phe282Cys) | |
| 20 | g.63439611A>G | CA409652475 | KCNQ2 | c.914T>C (p.Phe305Ser) n.652T>C c.395T>C (p.Phe132Ser) c.572T>C (p.Phe191Ser) n.1040T>C c.279T>C c.58T>C c.417T>C (p.Leu139=) n.739T>C c.788T>C (p.Phe263Ser) c.845T>C (p.Phe282Ser) | ClinVar |
| 20 | g.63439611A>T | CA409652476 | KCNQ2 | c.914T>A (p.Phe305Tyr) n.652T>A c.395T>A (p.Phe132Tyr) c.572T>A (p.Phe191Tyr) n.1040T>A c.279T>A c.58T>A c.417T>A (p.Leu139=) n.739T>A c.788T>A (p.Phe263Tyr) c.845T>A (p.Phe282Tyr) | |
| 20 | g.63439612A>C | CA409652479 | KCNQ2 | c.913T>G (p.Phe305Val) n.651T>G c.394T>G (p.Phe132Val) c.571T>G (p.Phe191Val) n.1039T>G c.278T>G c.57T>G c.416T>G (p.Leu139Arg) n.738T>G c.787T>G (p.Phe263Val) c.844T>G (p.Phe282Val) | |
| 20 | g.63439612A>G | CA409652478 | KCNQ2 | c.913T>C (p.Phe305Leu) n.651T>C c.394T>C (p.Phe132Leu) c.571T>C (p.Phe191Leu) n.1039T>C c.278T>C c.57T>C c.416T>C (p.Leu139Pro) n.738T>C c.787T>C (p.Phe263Leu) c.844T>C (p.Phe282Leu) | |
| 20 | g.63439612A>T | CA409652477 | KCNQ2 | c.913T>A (p.Phe305Ile) n.651T>A c.394T>A (p.Phe132Ile) c.571T>A (p.Phe191Ile) n.1039T>A c.278T>A c.57T>A c.416T>A (p.Leu139His) n.738T>A c.787T>A (p.Phe263Ile) c.844T>A (p.Phe282Ile) | |
| 20 | g.63439613G>A | CA153295 | KCNQ2 | c.912C>T (p.Phe304=) n.650C>T c.393C>T (p.Phe131=) c.570C>T (p.Phe190=) n.1038C>T c.277C>T c.56C>T c.415C>T (p.Leu139Phe) n.737C>T c.786C>T (p.Phe262=) c.843C>T (p.Phe281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63439613G>C | CA409652482 | KCNQ2 | c.912C>G (p.Phe304Leu) n.650C>G c.393C>G (p.Phe131Leu) c.570C>G (p.Phe190Leu) n.1038C>G c.277C>G c.56C>G c.415C>G (p.Leu139Val) n.737C>G c.786C>G (p.Phe262Leu) c.843C>G (p.Phe281Leu) | |
| 20 | g.63439613G= | CA2374791933 | KCNQ2 | c.912C= (p.Phe304=) n.650C= c.393C= (p.Phe131=) c.570C= (p.Phe190=) n.1038C= c.277C= c.56C= c.415C= (p.Leu139=) n.737C= c.786C= (p.Phe262=) c.843C= (p.Phe281=) | |
| 20 | g.63439613G>T | CA409652483 | KCNQ2 | c.912C>A (p.Phe304Leu) n.650C>A c.393C>A (p.Phe131Leu) c.570C>A (p.Phe190Leu) n.1038C>A c.277C>A c.56C>A c.415C>A (p.Leu139Ile) n.737C>A c.786C>A (p.Phe262Leu) c.843C>A (p.Phe281Leu) | |
| 20 | g.63439614A= | CA2374791934 | KCNQ2 | c.911T= (p.Phe304=) n.649T= c.392T= (p.Phe131=) c.569T= (p.Phe190=) n.1037T= c.276T= c.55T= c.414T= (p.Leu138=) n.736T= c.785T= (p.Phe262=) c.842T= (p.Phe281=) | |
| 20 | g.63439614A>C | CA409652485 | KCNQ2 | c.911T>G (p.Phe304Cys) n.649T>G c.392T>G (p.Phe131Cys) c.569T>G (p.Phe190Cys) n.1037T>G c.276T>G c.55T>G c.414T>G (p.Leu138=) n.736T>G c.785T>G (p.Phe262Cys) c.842T>G (p.Phe281Cys) | ClinVar dbSNP |
| 20 | g.63439614A>G | CA10654808 | KCNQ2 | c.911T>C (p.Phe304Ser) n.649T>C c.392T>C (p.Phe131Ser) c.569T>C (p.Phe190Ser) n.1037T>C c.276T>C c.55T>C c.414T>C (p.Leu138=) n.736T>C c.785T>C (p.Phe262Ser) c.842T>C (p.Phe281Ser) | ClinVar dbSNP |
| 20 | g.63439614A>T | CA409652487 | KCNQ2 | c.911T>A (p.Phe304Tyr) n.649T>A c.392T>A (p.Phe131Tyr) c.569T>A (p.Phe190Tyr) n.1037T>A c.276T>A c.55T>A c.414T>A (p.Leu138=) n.736T>A c.785T>A (p.Phe262Tyr) c.842T>A (p.Phe281Tyr) | ClinVar |
| 20 | g.63439615A>C | CA409652488 | KCNQ2 | c.910T>G (p.Phe304Val) n.648T>G c.391T>G (p.Phe131Val) c.568T>G (p.Phe190Val) n.1036T>G c.275T>G c.54T>G c.413T>G (p.Leu138Arg) n.735T>G c.784T>G (p.Phe262Val) c.841T>G (p.Phe281Val) | |
| 20 | g.63439615A>G | CA409652490 | KCNQ2 | c.910T>C (p.Phe304Leu) n.648T>C c.391T>C (p.Phe131Leu) c.568T>C (p.Phe190Leu) n.1036T>C c.275T>C c.54T>C c.413T>C (p.Leu138Pro) n.735T>C c.784T>C (p.Phe262Leu) c.841T>C (p.Phe281Leu) | |
| 20 | g.63439615A>T | CA409652491 | KCNQ2 | c.910T>A (p.Phe304Ile) n.648T>A c.391T>A (p.Phe131Ile) c.568T>A (p.Phe190Ile) n.1036T>A c.275T>A c.54T>A c.413T>A (p.Leu138His) n.735T>A c.784T>A (p.Phe262Ile) c.841T>A (p.Phe281Ile) | |
| 20 | g.63439616G>A | CA409652493 | KCNQ2 | c.909C>T (p.Ser303=) n.647C>T c.390C>T (p.Ser130=) c.567C>T (p.Ser189=) n.1035C>T c.274C>T c.53C>T c.412C>T (p.Leu138Phe) n.734C>T c.783C>T (p.Ser261=) c.840C>T (p.Ser280=) | dbSNP |
| 20 | g.63439616G>C | CA409652495 | KCNQ2 | c.909C>G (p.Ser303=) n.647C>G c.390C>G (p.Ser130=) c.567C>G (p.Ser189=) n.1035C>G c.274C>G c.53C>G c.412C>G (p.Leu138Val) n.734C>G c.783C>G (p.Ser261=) c.840C>G (p.Ser280=) | |
| 20 | g.63439616G= | CA2374791935 | KCNQ2 | c.909C= (p.Ser303=) n.647C= c.390C= (p.Ser130=) c.567C= (p.Ser189=) n.1035C= c.274C= c.53C= c.412C= (p.Leu138=) n.734C= c.783C= (p.Ser261=) c.840C= (p.Ser280=) | |
| 20 | g.63439616G>T | CA409652496 | KCNQ2 | c.909C>A (p.Ser303=) n.647C>A c.390C>A (p.Ser130=) c.567C>A (p.Ser189=) n.1035C>A c.274C>A c.53C>A c.412C>A (p.Leu138Ile) n.734C>A c.783C>A (p.Ser261=) c.840C>A (p.Ser280=) | |
| 20 | g.63439617G>A | CA409652502 | KCNQ2 | c.908C>T (p.Ser303Phe) n.646C>T c.389C>T (p.Ser130Phe) c.566C>T (p.Ser189Phe) n.1034C>T c.273C>T c.52C>T c.411C>T (p.Leu137=) n.733C>T c.782C>T (p.Ser261Phe) c.839C>T (p.Ser280Phe) | |
| 20 | g.63439617G>C | CA409652500 | KCNQ2 | c.908C>G (p.Ser303Cys) n.646C>G c.389C>G (p.Ser130Cys) c.566C>G (p.Ser189Cys) n.1034C>G c.273C>G c.52C>G c.411C>G (p.Leu137=) n.733C>G c.782C>G (p.Ser261Cys) c.839C>G (p.Ser280Cys) | ClinVar dbSNP |
| 20 | g.63439617G= | CA2374791936 | KCNQ2 | c.908C= (p.Ser303=) n.646C= c.389C= (p.Ser130=) c.566C= (p.Ser189=) n.1034C= c.273C= c.52C= c.411C= (p.Leu137=) n.733C= c.782C= (p.Ser261=) c.839C= (p.Ser280=) | |
| 20 | g.63439617G>T | CA409652498 | KCNQ2 | c.908C>A (p.Ser303Tyr) n.646C>A c.389C>A (p.Ser130Tyr) c.566C>A (p.Ser189Tyr) n.1034C>A c.273C>A c.52C>A c.411C>A (p.Leu137=) n.733C>A c.782C>A (p.Ser261Tyr) c.839C>A (p.Ser280Tyr) | |
| 20 | g.63439619_63439620del | CA2695230044 | KCNQ2 | c.907_908del (p.Ser303LeufsTer27) n.645_646del c.388_389del (p.Ser130LeufsTer27) c.565_566del (p.Ser189LeufsTer27) n.1033_1034del c.272_273del c.51_52del c.410_411del (p.Leu137ProfsTer27) n.732_733del c.781_782del (p.Ser261LeufsTer27) c.838_839del (p.Ser280LeufsTer27) | |
| 20 | g.63439618A>C | CA409652503 | KCNQ2 | c.907T>G (p.Ser303Ala) n.645T>G c.388T>G (p.Ser130Ala) c.565T>G (p.Ser189Ala) n.1033T>G c.272T>G c.51T>G c.410T>G (p.Leu137Arg) n.732T>G c.781T>G (p.Ser261Ala) c.838T>G (p.Ser280Ala) | |
| 20 | g.63439618A>G | CA409652504 | KCNQ2 | c.907T>C (p.Ser303Pro) n.645T>C c.388T>C (p.Ser130Pro) c.565T>C (p.Ser189Pro) n.1033T>C c.272T>C c.51T>C c.410T>C (p.Leu137Pro) n.732T>C c.781T>C (p.Ser261Pro) c.838T>C (p.Ser280Pro) | |
| 20 | g.63439618A>T | CA409652506 | KCNQ2 | c.907T>A (p.Ser303Thr) n.645T>A c.388T>A (p.Ser130Thr) c.565T>A (p.Ser189Thr) n.1033T>A c.272T>A c.51T>A c.410T>A (p.Leu137His) n.732T>A c.781T>A (p.Ser261Thr) c.838T>A (p.Ser280Thr) | |
| 20 | g.63439619G>A | CA409652508 | KCNQ2 | c.906C>T (p.Val302=) n.644C>T c.387C>T (p.Val129=) c.564C>T (p.Val188=) n.1032C>T c.271C>T c.50C>T c.409C>T (p.Leu137Phe) n.731C>T c.780C>T (p.Val260=) c.837C>T (p.Val279=) | gnomAD v4 |
| 20 | g.63439619G>C | CA409652510 | KCNQ2 | c.906C>G (p.Val302=) n.644C>G c.387C>G (p.Val129=) c.564C>G (p.Val188=) n.1032C>G c.271C>G c.50C>G c.409C>G (p.Leu137Val) n.731C>G c.780C>G (p.Val260=) c.837C>G (p.Val279=) | gnomAD v4 |
| 20 | g.63439619G>T | CA409652511 | KCNQ2 | c.906C>A (p.Val302=) n.644C>A c.387C>A (p.Val129=) c.564C>A (p.Val188=) n.1032C>A c.271C>A c.50C>A c.409C>A (p.Leu137Ile) n.731C>A c.780C>A (p.Val260=) c.837C>A (p.Val279=) |